G486D (p.Gly486Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G486D (p.Gly486Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloepiphyseal dysplasia congenita; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G486D (p.Gly486Asp) variant details
- p.Gly486Asp
- rs1939412490
- ClinGen CA384552753
- ClinVar RCV001251152
- ClinVar RCV001879814
- Likely pathogenic
- Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)